ClinVar

NM_004917.5(KLK4):c.637T>C (p.Cys213Arg)

Gene:

KLK4:kallikrein related peptidase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.41

Genomic location:

• Chr19: 50907062 (on Assembly GRCh38)
• Chr19: 51410318 (on Assembly GRCh37)

Preferred name:

NM_004917.5(KLK4):c.637T>C (p.Cys213Arg)

HGVS:

• NC_000019.10:g.50907062A>G
• NG_012154.2:g.8677T>C
• NM_001302961.2:c.352T>C
• NM_004917.5:c.637T>CMANE SELECT
• NP_001289890.1:p.Cys118Arg
• NP_004908.4:p.Cys213Arg
• NP_004908.4:p.Cys213Arg
• NC_000019.9:g.51410318A>G
• NM_004917.4:c.637T>C
• NR_126566.2:n.626T>C

This HGVS expression did not pass validation

Protein change:

C118R

Links:

dbSNP: rs1266288524

NCBI 1000 Genomes Browser:

rs1266288524

Molecular consequence:

• NM_001302961.2:c.352T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004917.5:c.637T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_126566.2:n.626T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]